SOS2

Protein identityUniProt · HPA

UniProt accession

Q07890

Gene

SOS2

Ensembl

ENSG00000100485

Chromosome

14

Canonical length

1332 aa

Protein class

Disease related genes, Human disease related genes, Plasma proteins, Predicted intracellular proteins, RAS pathway related proteins

Subcellular location

Nucleoplasm,Vesicles

OverviewNCBI Gene

This gene encodes a regulatory protein that is involved in the positive regulation of ras proteins. Mutations in this gene are associated with Noonan Syndrome-9. [provided by RefSeq, Jul 2016]

Canonical amino-acid sequenceUniProt

1332 residues, UniProt reviewed canonical sequence.

>Q07890|SOS2
     1  MQQAPQPYEF FSEENSPKWR GLLVSALRKV QEQVHPTLSA NEESLYYIEE LIFQLLNKLC
    61  MAQPRTVQDV EERVQKTFPH PIDKWAIADA QSAIEKRKRR NPLLLPVDKI HPSLKEVLGY
   121  KVDYHVSLYI VAVLEYISAD ILKLAGNYVF NIRHYEISQQ DIKVSMCADK VLMDMFDQDD
   181  IGLVSLCEDE PSSSGELNYY DLVRTEIAEE RQYLRELNMI IKVFREAFLS DRKLFKPSDI
   241  EKIFSNISDI HELTVKLLGL IEDTVEMTDE SSPHPLAGSC FEDLAEEQAF DPYETLSQDI
   301  LSPEFHEHFN KLMARPAVAL HFQSIADGFK EAVRYVLPRL MLVPVYHCWH YFELLKQLKA
   361  CSEEQEDREC LNQAITALMN LQGSMDRIYK QYSPRRRPGD PVCPFYSHQL RSKHLAIKKM
   421  NEIQKNIDGW EGKDIGQCCN EFIMEGPLTR IGAKHERHIF LFDGLMISCK PNHGQTRLPG
   481  YSSAEYRLKE KFVMRKIQIC DKEDTCEHKH AFELVSKDEN SIIFAAKSAE EKNNWMAALI
   541  SLHYRSTLDR MLDSVLLKEE NEQPLRLPSP EVYRFVVKDS EENIVFEDNL QSRSGIPIIK
   601  GGTVVKLIER LTYHMYADPN FVRTFLTTYR SFCKPQELLS LLIERFEIPE PEPTDADKLA
   661  IEKGEQPISA DLKRFRKEYV QPVQLRILNV FRHWVEHHFY DFERDLELLE RLESFISSVR
   721  GKAMKKWVES IAKIIRRKKQ AQANGVSHNI TFESPPPPIE WHISKPGQFE TFDLMTLHPI
   781  EIARQLTLLE SDLYRKVQPS ELVGSVWTKE DKEINSPNLL KMIRHTTNLT LWFEKCIVEA
   841  ENFEERVAVL SRIIEILQVF QDLNNFNGVL EIVSAVNSVS VYRLDHTFEA LQERKRKILD
   901  EAVELSQDHF KKYLVKLKSI NPPCVPFFGI YLTNILKTEE GNNDFLKKKG KDLINFSKRR
   961  KVAEITGEIQ QYQNQPYCLR IEPDMRRFFE NLNPMGSASE KEFTDYLFNK SLEIEPRNCK
  1021  QPPRFPRKST FSLKSPGIRP NTGRHGSTSG TLRGHPTPLE REPCKISFSR IAETELESTV
  1081  SAPTSPNTPS TPPVSASSDL SVFLDVDLNS SCGSNSIFAP VLLPHSKSFF SSCGSLHKLS
  1141  EEPLIPPPLP PRKKFDHDAS NSKGNMKSDD DPPAIPPRQP PPPKVKPRVP VPTGAFDGPL
  1201  HSPPPPPPRD PLPDTPPPVP LRPPEHFINC PFNLQPPPLG HLHRDSDWLR DISTCPNSPS
  1261  TPPSTPSPRV PRRCYVLSSS QNNLAHPPAP PVPPRQNSSP HLPKLPPKTY KRELSHPPLY
  1321  RLPLLENAET PQ

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against SOS2 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability

Cell surface

Secreted

No

Transmembrane segments

0

Mean surface accessibility (rSASA)

0.36

Highest tissue expression

60 nTPM

Expression across tissuesHPA

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about SOS2.

Disease | AllUniProt

Conditions SOS2 is implicated in, by any mechanism.

• Noonan syndrome 9 (NS9) MIM:616559

Disease | GeneticClinVar

12 pathogenic / likely-pathogenic of 2,051 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

• Noonan syndrome 9
• Noonan syndrome
• RASopathy
• Noonan syndrome 1
• SOS2-related disorder

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)

0.26

gnomAD pLI

1

gnomAD missense Z

2.53

DepMap mean gene effect

-0.1

DepMap dependency class

selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 2% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

• B cell homeostasis
• insulin receptor signaling pathway
• Ras protein signal transduction
• regulation of pro-B cell differentiation
• regulation of T cell differentiation in thymus
• regulation of T cell proliferation

Molecular functions

• guanyl-nucleotide exchange factor activity
• protein heterodimerization activity

Cellular components

• cytosol
• plasma membrane

Protein domainsUniProt · Pfam · InterPro

• Dbl homology domain
• Ras-like guanine nucleotide exchange factor, N-terminal
• Pleckstrin homology domain
• Ras guanine-nucleotide exchange factors catalytic domain
• Ras-like guanine nucleotide exchange factor
• Histone-fold
• PH-like domain superfamily
• Ras guanine-nucleotide exchange factor, conserved site
• Ras guanine nucleotide exchange factor domain superfamily
• Dbl homology (DH) domain superfamily
• Ras guanine-nucleotide exchange factor, catalytic domain superfamily
• SOS1/NGEF-like, PH domain
• RasGEF domain
• RasGEF N-terminal motif
• RhoGEF domain
• SOS1/NGEF-like PH domain

KeywordsUniProt

• Guanine-nucleotide releasing factor
• Methylation

InteractionsUniProt · HPA

Protein binding partners of SOS2 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

• GNA15
• TTC1
• SH3D19
• ABI1
• CRK
• EGFR
• GRB2
• PLCG1